News

A specialized congress on rare diseases was held in the Prague Hotel ILF on 14 to 16 September 2015 following the previous congress. The University Hospital in Motol Teaching Hospital, Department of Biology and Medical Genetics, PDP 3 project holder, was a partner of the project. For more information visit the website of the Czech Society for Internal Medicine.

On 24 to 25 September 2015, the Human Genetics from Mendel to the Present Day conference was held in the Mendel Museum in Brno in cooperation with the National Coordination Centre for Rare Diseases and with the support of the NF-CZ11-PDP-3-003-2014 project. The main topics were rare diseases, new methods of molecular-genetic diagnosis, care of patients with selected rare diseases and ethical aspects. The conference was attended by a representative of the Norwegian ambassador, Ms Monica Stensland. For more information see conference programme (a gallery is also available). Further information can be also found in the article on eeagrants.cz.

On 19 October 2015, the University Hospital in Motol was visited by the deputy of the Norwegian Foreign Minister, Elsbeth Tronstad, accompanied by the Norwegian ambassador to the Czech Republic, Siri E. Sletner. The Norwegian delegation was shown the current status of the project. The technology for capturing 3D models of dysmorphic patients was demonstrated during the visit – this system was purchased using the Norwegian funding. The deputy expressed her satisfaction and appreciation of the current project progress. For more information about the visit to Prague see the the Norwegian embassy or Facebook.

On 24 October 2015, a paediatric dermatology conference was held with the support of the National Coordination Centre for Rare Diseases in the University Hospital in Motol, reg. No. NF-CZ11-PDP-3-003-2014. It was attended by Dr Hana Bučková, a professional collaborator of the project.

With the support of the National Coordination Centre for Rare Diseases in the University Hospital in Motol, reg. No. NF-CZ11-PDP-3-003-2014, the professionals in this field actively participated in the Cavo project meeting, which was held in Prague 24 October 2015.

On January 22, 2016 the visit of the Norway project partner Dr. Gunnar Houge from Haukeland University Hospital in Bergen will be held (see the agenda below).

In the period from 1st March 2016 to 30th June 2016 two papers related to the project NF-CZ11-PDP-3-003-2014 were published:

• Svojgr K, Sumerauer D, Puchmajerova A, Vicha A, Hrusak O, Michalova K, Malis J, Smisek P, Kyncl M, Novotna D, Machackova E, Jencik J, Pycha K, Vaculik M, Kodet R, Stary J. Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children. Eur J Med Genet. 2016 Mar;59(3):152-7. doi: 10.1016/j.ejmg.2015.11.013. Epub 2015 Dec 2. PubMed PMID: 26657402.
• Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med. 2016 Apr 21. doi: 10.1038/gim.2016.32. [Epub ahead of print] PubMed PMID: 27101134.

Press release, 2nd February 2015
Rare Diseases Day 2016 press release

Project was finished on 30th April 2017, more information in press release.